Canonical Allele Identifier: CA344936593

Gene: LYST

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235712055A>G , CM000663.2:g.235712055A>G	GRCh38
NC_000001.10:g.235875355A>G , CM000663.1:g.235875355A>G	GRCh37
NC_000001.9:g.233941978A>G	NCBI36
NG_007397.1:g.176586T>C , LRG_143:g.176586T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000081.4:c.9925+2T>C MANE Select	NP_000072.2:n.9925+2T>C
ENST00000389793.7:c.9925+2T>C MANE Select	ENSP00000374443.2:n.9925+2T>C
NM_000081.3:c.9925+2T>C , LRG_143t1:c.9925+2T>C	NP_000072.2:n.9925+2T>C
NM_001301365.1:c.9925+2T>C , LRG_143t2:c.9925+2T>C	NP_001288294.1:n.9925+2T>C
ENST00000389793.6:c.9925+2T>C	ENSP00000374443.2:n.9925+2T>C
ENST00000389794.7:c.*5349+2T>C	ENSP00000374444.4:n.*5349+2T>C
ENST00000462376.1:n.344+2T>C
ENST00000462376.2:n.1335+2T>C
ENST00000473037.5:n.4915+2T>C
ENST00000697178.1:c.*5620+2T>C	ENSP00000513163.1:n.*5620+2T>C
ENST00000697179.1:n.2634+2T>C
ENST00000697235.1:c.475+2T>C	ENSP00000513202.1:n.475+2T>C
ENST00000697236.1:c.3389+2T>C	ENSP00000513203.1:n.3389+2T>C
ENST00000697237.1:c.741-2851T>C
ENST00000697240.1:c.2059+2T>C	ENSP00000513205.1:n.2059+2T>C
XM_011544031.1:c.10087+2T>C	XP_011542333.1:n.10087+2T>C
XM_011544032.1:c.10087+2T>C	XP_011542334.1:n.10087+2T>C
XM_011544033.1:c.10087+2T>C	XP_011542335.1:n.10087+2T>C
XM_011544033.2:c.10087+2T>C	XP_011542335.1:n.10087+2T>C
XM_011544034.1:c.9949+2T>C	XP_011542336.1:n.9949+2T>C
XM_011544036.1:c.7750+2T>C	XP_011542338.1:n.7750+2T>C
XM_011544036.2:c.7750+2T>C	XP_011542338.1:n.7750+2T>C
XM_017000150.1:c.10087+2T>C	XP_016855639.1:n.10087+2T>C